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Ian P. Blair

macquarie university

51H-index
194Paper Count
1.5WCitation Count
Published Papers 102
Publication Date
Ultra-rare variants in LAMA2 are risk factors for frontotemporal dementia and motor neuron disease
err2026-05-21
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errHiu Chuen Lok; Carol Dobson-Stone; Marianne Hallupp; Sophie Matis; Ramon Landin-Romero; Boris Guennewig; Hamish Mundell; Anthony S Don; Jennifer Fifita; Emily P McCann; Sandrine Chan Moi Fat; Ian P Blair; Karen A Mather; Anbupalam Thalamuthu; Wei Wen; Perminder S Sachdev; William S Brooks; Olivier Piguet; Glenda M Halliday; Woojin S Kim; John B Kwok; null
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A meta-analysis of genetic variant pathogenicity and sex differences in UBQLN2-linked amyotrophic lateral sclerosis and frontotemporal dementia
err2025-09-26
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errKyrah M. Thumbadoo; Laura R. Nementzik; Molly E.V. Swanson; Birger V. Dieriks; Michael Dragunow; Richard L.M. Faull; Maurice A. Curtis; Ian P. Blair; Garth A. Nicholson; Kelly L. Williams; Emma L. Scotter
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Parkinson-like wild-type superoxide dismutase 1 pathology induces nigral dopamine neuron degeneration in a novel murine model
err2025-03-05
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errAbdeen, AH; Trist, BG; Nikseresht, S; Harwood, R; Roudeau, S; Rowlands, BD; Kreilaus, F; Cottam, V; Mor, D; Richardson, M; Siciliano, J; Forkgen, J; Schaffer, G; Genoud, S; Li, AA; Proschogo, N; Antonio, B; Falkenberg, G; Brueckner, D; Kysenius, K; Liddell, JR; Fat, SCM; Wu, S; Fifita, J; Lockwood, TE; Bishop, DP; Blair, I; Ortega, R; Crouch, PJ; Double, KL
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The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration (vol 13, 6901, 2022)
err2024-07-02
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errOpie-Martin, Sarah; Iacoangeli, Alfredo; Topp, Simon D.; Abel, Olubunmi; Mayl, Keith; Mehta, Puja R.; Shatunov, Aleksey; Fogh, Isabella; Bowles, Harry; Limbachiya, Naomi; Spargo, Thomas P.; Al-Khleifat, Ahmad; Williams, Kelly L.; Jockel-Balsarotti, Jennifer; Bali, Taha; Self, Wade; Henden, Lyndal; Nicholson, Garth A.; Ticozzi, Nicola; McKenna-Yasek, Diane; Tang, Lu; Shaw, Pamela J.; Chio, Adriano; Ludolph, Albert; Weishaupt, Jochen H.; Landers, John E.; Glass, Jonathan D.; Mora, Jesus S.; Robberecht, Wim; Van Damme, Philip; McLaughlin, Russell; Hardiman, Orla; van den Berg, Leonard; Veldink, Jan H.; Corcia, Phillippe; Stevic, Zorica; Siddique, Nailah; Silani, Vincenzo; Blair, Ian P.; Fan, Dong-sheng; Esselin, Florence; de la Cruz, Elisa; Camu, William; Basak, Nazli A.; Siddique, Teepu; Miller, Timothy; Brown, Robert H.; Al-Chalabi, Ammar; Shaw, Christopher E.
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Protein Disulfide Isomerase Endoplasmic Reticulum Protein 57 (ERp57) is Protective Against ALS-Associated Mutant TDP-43 in Neuronal Cells
err2024-06-11
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errParakh, Sonam; Perri, Emma R.; Vidal, Marta; Takalloo, Zeinab; Jagaraj, Cyril J.; Mehta, Prachi; Yang, Shu; Thomas, Colleen J.; Blair, Ian P.; Hong, Yuning; Atkin, Julie D.
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Targeting 14-3-3 0-mediated TDP-43 pathology in amyotrophic lateral sclerosis and frontotemporal dementia mice
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IF15
err2024-04-01
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PREAI
errKe, Yazi D.; van Hummel, Annika; Au, Carol; Chan, Gabriella; Lee, Wei Siang; van der Hoven, Julia; Przybyla, Magdalena; Deng, Yuanyuan; Sabale, Miheer; Morey, Nicolle; Bertz, Josefine; Feiten, Astrid; Ippati, Stefania; Stevens, Claire H.; Yang, Shu; Gladbach, Amadeus; Haass, Nikolas K.; Kril, Jillian J.; Blair, Ian P.; Delerue, Fabien; Ittner, Lars M.
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Cyclin F can alter the turnover of TDP-43
err2024-03-01
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errRayner, Stephanie L.; Hogan, Alison; Davidson, Jennilee M.; Chapman, Tyler; Cheng, Flora; Luu, Luan; Wu, Sharlynn; Zhang, Selina; Yang, Shu; Blair, Ian; Morsch, Marco; Chung, Roger; Lee, Albert
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Letter to the editor on: Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022)
err2024-01-02
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errLuo, Huihui; Gustavsson, Emil K.; Macpherson, Hannah; Dominik, Natalia; Zhelcheska, Kristina; Montgomery, Kylie; Anderson, Claire; Yau, Wai Yan; Efthymiou, Stephanie; Turner, Chris; DeTure, Michael; Dickson, Dennis W.; Josephs, Keith A.; Revesz, Tamas; Lashley, Tammaryn; Halliday, Glenda; Rowe, Dominic B.; McCann, Emily; Blair, Ian; Lees, Andrew J.; Tienari, Pentti J.; Suomalainen, Anu; Molina-Porcel, Laura; Kovacs, Gabor G.; Gelpi, Ellen; Hardy, John; Haltia, Matti J.; Tucci, Arianna; Jaunmuktane, Zane; Ryten, Mina; Houlden, Henry; Chen, Zhongbo
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Distribution of ubiquilin 2 and TDP-43 aggregates throughout the CNS in UBQLN2 p.T487I-linked amyotrophic lateral sclerosis and frontotemporal dementia
err2023-12-19
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errNementzik, Laura R.; Thumbadoo, Kyrah M.; Murray, Helen C.; Gordon, David; Yang, Shu; Blair, Ian P.; Turner, Clinton; Faull, Richard L. M.; Curtis, Maurice A.; McLean, Catriona; Nicholson, Garth A.; Swanson, Molly E. V.; Scotter, Emma L.
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ALS/FTD-associated mutation in cyclin F inhibits ER-Golgi trafficking, inducing ER stress, ERAD and Golgi fragmentation
err2023-11-22
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errRagagnin, Audrey M. G.; Sundaramoorthy, Vinod; Farzana, Fabiha; Gautam, Shashi; Saravanabavan, Sayanthooran; Takalloo, Zeinab; Mehta, Prachi; Do-Ha, Dzung; Parakh, Sonam; Shadfar, Sina; Hunter, Julie; Vidal, Marta; Jagaraj, Cyril J.; Brocardo, Mariana; Konopka, Anna; Yang, Shu; Rayner, Stephanie L.; Williams, Kelly L.; Blair, Ian P.; Chung, Roger S.; Lee, Albert; Ooi, Lezanne; Atkin, Julie D.
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RNA sequencing of peripheral blood in amyotrophic lateral sclerosis reveals distinct molecular subtypes: Considerations for biomarker discovery
err2023-11-07
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errGrima, Natalie; Liu, Sidong; Southwood, Dean; Henden, Lyndal; Smith, Andrew; Lee, Albert; Rowe, Dominic B.; D'Silva, Susan; Blair, Ian P.; Williams, Kelly L.
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Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants
err2023-08-25
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errMcCann, Emily P.; Grima, Natalie; Fifita, Jennifer A.; Fat, Sandrine Chan Moi; Lehnert, Klaus; Henden, Lyndal; Blair, Ian P.; Williams, Kelly L.
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ALS-linked CCNF variant disrupts motor neuron ubiquitin homeostasis
err2023-05-23
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errFarrawell, Natalie E.; Bax, Monique; McAlary, Luke; McKenna, Jessie; Maksour, Simon; Do-Ha, Dzung; Rayner, Stephanie L.; Blair, Ian P.; Chung, Roger S.; Yerbury, Justin J.; Ooi, Lezanne; Saunders, Darren N.
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Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia
err2023-05-05
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errHenden, Lyndal; Fearnley, Liam G.; Grima, Natalie; McCann, Emily P.; Dobson-Stone, Carol; Fitzpatrick, Lauren; Friend, Kathryn; Hobson, Lynne; Fat, Sandrine Chan Moi; Rowe, Dominic B.; D'Silva, Susan; Kwok, John B.; Halliday, Glenda M.; Kiernan, Matthew C.; Mazumder, Srestha; Timmins, Hannah C.; Zoing, Margaret; Pamphlett, Roger; Adams, Lorel; Bahlo, Melanie; Blair, Ian P.; Williams, Kelly L.
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The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration
err2022-11-12
err22
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errOpie-Martin, Sarah; Iacoangeli, Alfredo; Topp, Simon D.; Abel, Olubunmi; Mayl, Keith; Mehta, Puja R.; Shatunov, Aleksey; Fogh, Isabella; Bowles, Harry; Limbachiya, Naomi; Spargo, Thomas P.; Al-Khleifat, Ahmad; Williams, Kelly L.; Jockel-Balsarotti, Jennifer; Bali, Taha; Self, Wade; Henden, Lyndal; Nicholson, Garth A.; Ticozzi, Nicola; McKenna-Yasek, Diane; Tang, Lu; Shaw, Pamela J.; Chio, Adriano; Ludolph, Albert; Weishaupt, Jochen H.; Landers, John E.; Glass, Jonathan D.; Mora, Jesus S.; Robberecht, Wim; Van Damme, Philip; McLaughlin, Russell; Hardiman, Orla; van den Berg, Leonard; Veldink, Jan H.; Corcia, Phillippe; Stevic, Zorica; Siddique, Nailah; Silani, Vincenzo; Blair, Ian P.; Fan, Dong-sheng; Esselin, Florence; de la Cruz, Elisa; Camu, William; Basak, Nazli A.; Siddique, Teepu; Miller, Timothy; Brown, Robert H.; Al-Chalabi, Ammar; Shaw, Christopher E.
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Cyclin F, Neurodegeneration, and the Pathogenesis of ALS/FTD
err2022-09-05
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PREAI
errRayner, Stephanie L.; Hogan, Alison; Davidson, Jennilee M.; Cheng, Flora; Luu, Luan; Morsch, Marco; Blair, Ian; Chung, Roger; Lee, Albert
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Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration
err2022-08-25
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errTrist, Benjamin G.; Fifita, Jennifer A.; Hogan, Alison; Grima, Natalie; Smith, Bradley; Troakes, Claire; Vance, Caroline; Shaw, Christopher; Al-Sarraj, Safa; Blair, Ian P.; Double, Kay L.
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NEK1 and STMN2 short tandem repeat lengths are not associated with Australian amyotrophic lateral sclerosis risk
err2022-08-01
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PREAI
errGrima, Natalie; Henden, Lyndal; Fearnley, Liam G.; Rowe, Dominic B.; D'Silva, Susan; Pamphlett, Roger; Adams, Lorel; Kiernan, Matthew C.; Mazumder, Srestha; Timmins, Hannah C.; Zoing, Margaret; Bahlo, Melanie; Blair, Ian P.; Williams, Kelly L.
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Association between DNA methylation variability and self-reported exposure to heavy metals
err2022-06-22
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errFreydenzon, Anna; Nabais, Marta F.; Lin, Tian; Williams, Kelly L.; Wallace, Leanne; Henders, Anjali K.; Blair, Ian P.; Wray, Naomi R.; Pamphlett, Roger; McRae, Allan F.
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TDP-43 is a ubiquitylation substrate of the SCFcyclin F complex
err2022-06-01
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errRayner, Stephanie L.; Yang, Shu; Farrawell, Natalie E.; Jagaraj, Cyril J.; Cheng, Flora; Davidson, Jennilee M.; Luu, Luan; Redondo, Alberto G.; Rabano, Alberto; Borrego-Hernandez, Daniel; Atkin, Julie D.; Morsch, Marco; Blair, Ian P.; Yerbury, Justin J.; Chung, Roger; Lee, Albert
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